Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
EIF6 P56537 eukaryotic translation initiation factor 6 Nucleic acid binding 0.24 0.584 0.538
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
HOXD3 P31249 homeobox D3 0.44 0.670 0.462
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MIR486-1 microRNA 486-1 0.521 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PAX2 Q02962 paired box 2 0.67 0.495 0.731
PAX8 Q06710 paired box 8 1.00 0.477 0.731
ROS1 P08922 ROS proto-oncogene 1, receptor tyrosine kinase Kinase 1.6E-72 0.439 0.885
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
TEK Q02763 TEK receptor tyrosine kinase Kinase 1.00 0.462 0.692
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
YAP1 P46937 Yes associated protein 1 Enzyme modulator 1.00 0.432 0.808